Submissions for variant NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=)

gnomAD frequency: 0.87799  dbSNP: rs1722462

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522640	SCV001732222	benign	2-aminoadipic 2-oxoadipic aciduria	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001658233	SCV001876694	benign	Charcot-Marie-Tooth disease axonal type 2Q	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001522640	SCV001876696	benign	2-aminoadipic 2-oxoadipic aciduria	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001696236	SCV001915910	benign	not provided	2020-04-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001696236	SCV005323838	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528823	SCV001741225	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001528823	SCV001926194	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528823	SCV001951738	benign	not specified		no assertion criteria provided	clinical testing